Variant report

Variant	rs55849299
Chromosome Location	chr19:36546383-36546384
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr19:36546074-36546495	K562	blood:	n/a	chr19:36546412-36546421 chr19:36546484-36546492
2	MYBL2	chr19:36544843-36546448	HepG2	liver:	n/a	n/a
3	MTA3	chr19:36544285-36546578	GM12878	blood:	n/a	n/a
4	YY1	chr19:36544730-36546385	A549	lung:	n/a	chr19:36545869-36545881 chr19:36545824-36545835 chr19:36545768-36545782
5	SIN3AK20	chr19:36544468-36546603	A549	lung:	n/a	n/a
6	POLR2A	chr19:36544811-36546401	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr19:36544548-36546602	U87	brain:	n/a	n/a
8	HCFC1	chr19:36544301-36546572	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr19:36544631-36546400	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr19:36544307-36546871	A549	lung:	n/a	chr19:36546139-36546149 chr19:36545315-36545324 chr19:36545218-36545227 chr19:36545389-36545396 chr19:36545387-36545396 chr19:36546410-36546419 chr19:36545315-36545324 chr19:36546208-36546218 chr19:36545385-36545400 chr19:36545315-36545324
11	MAX	chr19:36544542-36546623	ECC-1	luminal epithelium:	n/a	chr19:36546139-36546149 chr19:36545315-36545324 chr19:36545218-36545227 chr19:36545389-36545396 chr19:36545387-36545396 chr19:36546410-36546419 chr19:36545315-36545324 chr19:36546208-36546218 chr19:36545385-36545400 chr19:36545315-36545324
12	TCF12	chr19:36544842-36546523	ECC-1	luminal epithelium:	n/a	n/a
13	MAZ	chr19:36544788-36546511	Hela-S3	cervix:	n/a	chr19:36546139-36546149 chr19:36545315-36545324 chr19:36545218-36545227 chr19:36545389-36545396 chr19:36545387-36545396 chr19:36546410-36546419 chr19:36545315-36545324 chr19:36546208-36546218 chr19:36545385-36545400 chr19:36545315-36545324
14	PML	chr19:36544751-36546392	GM12878	blood:	n/a	n/a
15	BACH1	chr19:36544556-36546602	H1-hESC	embryonic stem cell:	n/a	n/a
16	YY1	chr19:36544783-36546423	K562	blood:	n/a	chr19:36545869-36545881 chr19:36545824-36545835 chr19:36545768-36545782
17	POLR2A	chr19:36544690-36546447	SK-N-SH	brain:	n/a	n/a
18	MAZ	chr19:36544397-36546676	IMR90	lung:	n/a	chr19:36546139-36546149 chr19:36545315-36545324 chr19:36545218-36545227 chr19:36545389-36545396 chr19:36545387-36545396 chr19:36546410-36546419 chr19:36545315-36545324 chr19:36546208-36546218 chr19:36545385-36545400 chr19:36545315-36545324
19	BRCA1	chr19:36545047-36546407	Hela-S3	cervix:	n/a	n/a
20	MYC	chr19:36546337-36546445	MCF10A-Er-Src	breast:	n/a	chr19:36546410-36546419
21	POLR2A	chr19:36544733-36546499	ECC-1	luminal epithelium:	n/a	n/a
22	SIX5	chr19:36544269-36546851	A549	lung:	n/a	n/a
23	POLR2A	chr19:36544529-36546432	GM12892	blood:	n/a	n/a
24	POLR2A	chr19:36544736-36546465	K562	blood:	n/a	n/a
25	CHD2	chr19:36544721-36546434	Hela-S3	cervix:	n/a	n/a
26	FOS	chr19:36546275-36546478	MCF10A-Er-Src	breast:	n/a	chr19:36546412-36546419 chr19:36546410-36546420 chr19:36546407-36546418 chr19:36546411-36546419 chr19:36546409-36546421 chr19:36546411-36546419
27	POLR2A	chr19:36544798-36546508	Hela-S3	cervix:	n/a	n/a
28	MAX	chr19:36544566-36546459	K562	blood:	n/a	chr19:36546139-36546149 chr19:36545315-36545324 chr19:36545218-36545227 chr19:36545389-36545396 chr19:36545387-36545396 chr19:36546410-36546419 chr19:36545315-36545324 chr19:36546208-36546218 chr19:36545385-36545400 chr19:36545315-36545324
29	CREB1	chr19:36544732-36546504	A549	lung:	n/a	n/a
30	POLR2A	chr19:36544739-36546475	Hela-S3	cervix:	n/a	n/a
31	MAX	chr19:36544743-36546389	Hela-S3	cervix:	n/a	chr19:36546139-36546149 chr19:36545315-36545324 chr19:36545218-36545227 chr19:36545389-36545396 chr19:36545387-36545396 chr19:36545315-36545324 chr19:36546208-36546218 chr19:36545385-36545400 chr19:36545315-36545324
32	POLR2A	chr19:36544624-36546399	GM12878	blood:	n/a	n/a
33	ETS1	chr19:36544765-36546415	A549	lung:	n/a	n/a
34	BCL3	chr19:36544380-36546939	A549	lung:	n/a	chr19:36546188-36546197 chr19:36546411-36546420
35	MAZ	chr19:36546278-36546432	GM12878	blood:	n/a	chr19:36546410-36546419
36	CREB1	chr19:36544490-36546457	GM12878	blood:	n/a	n/a
37	MYC	chr19:36544767-36546417	K562	blood:	n/a	chr19:36546139-36546149 chr19:36545315-36545324 chr19:36545218-36545227 chr19:36545389-36545396 chr19:36545387-36545396 chr19:36545315-36545324 chr19:36546208-36546218 chr19:36545385-36545400 chr19:36545315-36545324
38	MYC	chr19:36544745-36546521	NB4	blood:	n/a	chr19:36545218-36545227 chr19:36545315-36545324 chr19:36545389-36545396 chr19:36546208-36546218 chr19:36545387-36545396 chr19:36545315-36545324 chr19:36546139-36546149 chr19:36545385-36545400 chr19:36546410-36546419 chr19:36545315-36545324
39	POLR2A	chr19:36544579-36546422	H1-hESC	embryonic stem cell:	n/a	n/a
40	TCF12	chr19:36544285-36546762	A549	lung:	n/a	n/a
41	SIN3A	chr19:36544683-36546586	H1-hESC	embryonic stem cell:	n/a	chr19:36544955-36544968 chr19:36544957-36544968 chr19:36545145-36545158
42	POLR2A	chr19:36544868-36546412	K562	blood:	n/a	n/a
43	SMARCB1	chr19:36544818-36546599	Hela-S3	cervix:	n/a	n/a
44	ETS1	chr19:36545686-36546578	A549	lung:	n/a	n/a
45	POLR2A	chr19:36544948-36546521	Hela-S3	cervix:	n/a	n/a
46	CREB1	chr19:36544526-36546575	HepG2	liver:	n/a	n/a
47	MXI1	chr19:36544756-36546474	Hela-S3	cervix:	n/a	n/a
48	PBX3	chr19:36544443-36546686	A549	lung:	n/a	n/a
49	TBL1XR1	chr19:36545071-36546411	K562	blood:	n/a	n/a
50	MAFK	chr19:36546002-36546750	K562	blood:	n/a	chr19:36546409-36546418 chr19:36546409-36546419

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:36546349-36546399	NB4	blood:	n/a
2	chr19:36546349-36546399	HL-60	blood:	n/a
3	chr19:36546349-36546399	LNCaP	prostate:	n/a
4	chr19:36546349-36546399	PANC-1	pancreas:	n/a
5	chr19:36546349-36546399	SK-N-MC	brain:	n/a
6	chr19:36546349-36546399	HAEpiC	amniotic membrane:	n/a
7	chr19:36546349-36546399	NHBE	bronchial:	n/a
8	chr19:36546349-36546399	NT2-D1	testis:	n/a
9	chr19:36546349-36546399	HCF	heart:	n/a
10	chr19:36546349-36546399	ovcar-3	ovarian:	n/a
11	chr19:36546349-36546399	SKMC	muscle:	n/a
12	chr19:36546349-36546399	Caco-2	colon:	n/a
13	chr19:36546349-36546399	HCM	heart:	n/a
14	chr19:36546349-36546399	HRE	kidney:	n/a
15	chr19:36546349-36546399	NHDF-neo	bronchial:	n/a
16	chr19:36546349-36546399	H1-hESC	embryonic stem cell:	embryo
17	chr19:36546349-36546399	HMEC	breast:	n/a
18	chr19:36546349-36546399	HUVEC	blood vessel:	n/a
19	chr19:36546349-36546399	U87	brain:	n/a
20	chr19:36546349-36546399	SK-N-SH_RA	brain:	n/a
21	chr19:36546349-36546399	ProgFib	skin:	n/a
22	chr19:36546349-36546399	MCF10A-Er-Src	breast:	n/a
23	chr19:36546349-36546399	HepG2	liver:	n/a
24	chr19:36546349-36546399	HCPEpiC	choroid plexus:	n/a
25	chr19:36546349-36546399	AG04449	skin:	fetal
26	chr19:36546349-36546399	HNPCEpiC	eye:	n/a
27	chr19:36546349-36546399	HPAEpiC	pulmonary alveolar:	n/a
28	chr19:36546349-36546399	Hepatocyte	liver:	n/a
29	chr19:36546349-36546399	BE2_C	brain:	n/a
30	chr19:36546349-36546399	AG09319	gingival:	n/a
31	chr19:36546349-36546399	Hela-S3	cervix:	n/a
32	chr19:36546349-36546399	MCF-7	breast:	n/a
33	chr19:36546349-36546399	A549	lung:	n/a
34	chr19:36546349-36546399	AG09309	skin:	n/a
35	chr19:36546349-36546399	HEEpiC	esophagus:	n/a
36	chr19:36546349-36546399	GM19239	blood:	n/a
37	chr19:36546349-36546399	HEK293	kidney:	embryo
38	chr19:36546349-36546399	PrEC	prostate:	n/a
39	chr19:36546349-36546399	NH-A	brain:	n/a
40	chr19:36546349-36546399	HCT-116	colon:	n/a
41	chr19:36546349-36546399	SK-N-SH	brain:	n/a
42	chr19:36546349-36546399	AG10803	skin:	n/a
43	chr19:36546349-36546399	HRPEpiC	eye:	n/a
44	chr19:36546349-36546399	ECC-1	luminal epithelium:	n/a
45	chr19:36546349-36546399	GM12878	blood:	n/a
46	chr19:36546349-36546399	GM12892	blood:	n/a
47	chr19:36546349-36546399	CMK	blood:	n/a
48	chr19:36546349-36546399	PFSK-1	brain:	n/a
49	chr19:36546349-36546399	AG04450	lung:	fetal
50	chr19:36546349-36546399	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36370756..36373249-chr19:36545654..36547165,2	MCF-7	breast:
2	chr19:36485012..36486655-chr19:36544977..36546825,2	K562	blood:
3	chr19:36497884..36507784-chr19:36542079..36547610,17	MCF-7	breast:
4	chr19:36393181..36395162-chr19:36544398..36547293,2	K562	blood:
5	chr19:36544216..36546740-chr19:36604520..36606743,4	K562	blood:
6	chr19:36484913..36488286-chr19:36544915..36548972,3	MCF-7	breast:
7	chr19:36484527..36490376-chr19:36543488..36547183,11	K562	blood:
8	chr19:36543278..36547003-chr19:36629856..36633093,3	MCF-7	breast:
9	chr19:36543835..36550918-chr19:36603651..36608049,11	MCF-7	breast:
10	chr19:36543201..36546500-chr19:36630161..36633757,3	MCF-7	breast:
11	chr19:36544655..36547364-chr19:36630776..36632492,2	K562	blood:
12	chr19:36504655..36506922-chr19:36544255..36547222,4	K562	blood:
13	chr19:36545240..36547330-chr19:36604696..36606743,2	K562	blood:
14	chr19:36496294..36501686-chr19:36543356..36547257,9	MCF-7	breast:
15	chr19:36543772..36546988-chr19:36561665..36565427,3	MCF-7	breast:
16	chr19:36502189..36508386-chr19:36540645..36546835,9	MCF-7	breast:

Variant related genes	Relation type
THAP8	TF binding region
THAP8	CpG island
ENSG00000126264	Chromatin interaction
ENSG00000205138	Chromatin interaction
ENSG00000243968	Chromatin interaction
ENSG00000105258	Chromatin interaction
ENSG00000126247	Chromatin interaction
ENSG00000267698	Chromatin interaction
ENSG00000105254	Chromatin interaction
ENSG00000105261	Chromatin interaction
ENSG00000239382	Chromatin interaction
ENSG00000075702	Chromatin interaction
ENSG00000167604	Chromatin interaction
ENSG00000181392	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1009381	0.87[ASN][1000 genomes]
rs10406862	0.90[ASN][1000 genomes]
rs10419924	0.84[ASN][1000 genomes]
rs10420345	0.87[ASN][1000 genomes]
rs10421377	0.85[ASN][1000 genomes]
rs10422055	0.85[ASN][1000 genomes]
rs10425700	0.86[ASN][1000 genomes]
rs10427033	0.87[ASN][1000 genomes]
rs11538454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11666192	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11669890	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12608517	0.98[ASN][1000 genomes]
rs2023866	0.86[ASN][1000 genomes]
rs2074435	0.83[ASN][1000 genomes]
rs2075472	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2141959	0.84[ASN][1000 genomes]
rs2301734	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2301737	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2871649	0.98[ASN][1000 genomes]
rs4555271	0.84[ASN][1000 genomes]
rs4806249	0.88[ASN][1000 genomes]
rs4806254	0.82[ASN][1000 genomes]
rs4806262	0.87[ASN][1000 genomes]
rs4806271	0.88[ASN][1000 genomes]
rs4806273	0.83[ASN][1000 genomes]
rs4806276	0.91[ASN][1000 genomes]
rs7250364	0.93[ASN][1000 genomes]
rs7251912	0.90[ASN][1000 genomes]
rs7257026	0.83[ASN][1000 genomes]
rs7258807	0.98[ASN][1000 genomes]
rs73036134	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8112640	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv833815	chr19:36519803-36624936	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36543600-36546800	Active TSS	Fetal Kidney	kidney
2	chr19:36543600-36547000	Active TSS	NHDF-Ad	bronchial
3	chr19:36543800-36546400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr19:36544000-36546400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:36544000-36546400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:36544200-36546400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:36544200-36546400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:36544200-36546400	Active TSS	Muscle Satellite Cultured Cells	--
9	chr19:36544200-36546600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:36544200-36546600	Active TSS	Psoas Muscle	Psoas
11	chr19:36544200-36546800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr19:36544200-36546800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:36544200-36546800	Active TSS	HSMM	muscle
14	chr19:36544200-36547600	Active TSS	NHLF	lung
15	chr19:36544400-36546400	Active TSS	Esophagus	oesophagus
16	chr19:36544400-36546400	Active TSS	Right Atrium	heart
17	chr19:36544400-36546400	Active TSS	Osteobl	bone
18	chr19:36544400-36546600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr19:36544400-36546600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:36544400-36546600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr19:36544400-36546600	Active TSS	GM12878-XiMat	blood
22	chr19:36544400-36546800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr19:36544400-36546800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:36544400-36547000	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr19:36544400-36547000	Active TSS	NH-A	brain
26	chr19:36544400-36547200	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr19:36544400-36547200	Active TSS	H9 Cell Line	embryonic stem cell
28	chr19:36544400-36547200	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr19:36544400-36547200	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr19:36544400-36547400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:36544600-36546400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:36544600-36546400	Active TSS	Fetal Intestine Large	intestine
33	chr19:36544600-36546400	Active TSS	Small Intestine	intestine
34	chr19:36544600-36546600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:36544600-36546800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr19:36544600-36547000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr19:36544600-36547200	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr19:36544600-36547200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:36544600-36547600	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr19:36544800-36546400	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr19:36544800-36546400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr19:36544800-36546400	Active TSS	A549	lung
43	chr19:36544800-36546400	Active TSS	Dnd41	blood
44	chr19:36544800-36546400	Active TSS	Hela-S3	cervix
45	chr19:36544800-36546600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:36544800-36546600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:36544800-36546800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr19:36544800-36546800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr19:36544800-36547200	Active TSS	NHEK	skin
50	chr19:36545000-36546400	Active TSS	HMEC	breast

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